Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:Pkhd1'

618108

Institutional Source

Beutler Lab

Gene Symbol

Pkhd1

Ensembl Gene

ENSMUSG00000043760

Gene Name

polycystic kidney and hepatic disease 1

Synonyms

FPC, tigmin

MMRRC Submission

067471-MU

Accession Numbers

Genbank: NM_153179; MGI: 2155808

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20057779-20618064 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20381438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 2211 (H2211L)

Ref Sequence

ENSEMBL: ENSMUSP00000085794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088448]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088448
AA Change: H2211L

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085794
Gene: ENSMUSG00000043760
AA Change: H2211L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:IPT	134	254	1e-45	BLAST
IPT	256	353	1.13e-3	SMART
low complexity region	722	743	N/A	INTRINSIC
low complexity region	896	909	N/A	INTRINSIC
Pfam:TIG	936	1005	9.1e-8	PFAM
IPT	1016	1101	1.18e-6	SMART
IPT	1105	1190	1.27e0	SMART
IPT	1193	1290	7.05e-5	SMART
IPT	1384	1467	1.36e1	SMART
IPT	1568	1655	2.4e0	SMART
low complexity region	1881	1892	N/A	INTRINSIC
G8	1928	2049	1.15e-48	SMART
low complexity region	2079	2094	N/A	INTRINSIC
PbH1	2244	2266	7.82e3	SMART
PbH1	2287	2321	2.23e3	SMART
PbH1	2404	2426	7.19e2	SMART
PbH1	2459	2481	2.64e2	SMART
low complexity region	2713	2728	N/A	INTRINSIC
G8	2734	2867	1.73e-43	SMART
Blast:G8	2876	2923	2e-17	BLAST
PbH1	3004	3026	3.98e3	SMART
PbH1	3027	3049	1.27e0	SMART
PbH1	3080	3102	5.92e2	SMART
low complexity region	3178	3187	N/A	INTRINSIC
PbH1	3188	3212	8.08e3	SMART
transmembrane domain	3852	3874	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(4)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773 (GRCm38)	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554 (GRCm38)	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511 (GRCm38)	I1530F		Het
Bean1	CT	C	8: 104,182,032 (GRCm38)		probably null	Het
C130026I21Rik	T	A	1: 85,254,160 (GRCm38)	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875 (GRCm38)	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831 (GRCm38)	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964 (GRCm38)	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883 (GRCm38)	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568 (GRCm38)	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225 (GRCm38)	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856 (GRCm38)	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307 (GRCm38)	M112K	probably benign	Het
Faim	T	C	9: 98,992,733 (GRCm38)	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691 (GRCm38)	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355 (GRCm38)	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260 (GRCm38)	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604 (GRCm38)	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164 (GRCm38)	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699 (GRCm38)	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441 (GRCm38)	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909 (GRCm38)	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068 (GRCm38)		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071 (GRCm38)		probably null	Het
Lcn6	T	A	2: 25,676,871 (GRCm38)	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356 (GRCm38)	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148 (GRCm38)	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551 (GRCm38)	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588 (GRCm38)	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529 (GRCm38)	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723 (GRCm38)		probably null	Het
Olfr1238	A	G	2: 89,406,737 (GRCm38)	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851 (GRCm38)	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566 (GRCm38)	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566 (GRCm38)	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005 (GRCm38)	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677 (GRCm38)	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800 (GRCm38)	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200 (GRCm38)	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399 (GRCm38)	G616A	possibly damaging	Het
Sec13	T	C	6: 113,735,089 (GRCm38)	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482 (GRCm38)	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841 (GRCm38)	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813 (GRCm38)	E61V	unknown	Het
Tead3	A	C	17: 28,333,229 (GRCm38)	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199 (GRCm38)	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167 (GRCm38)	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066 (GRCm38)	A280E	probably damaging	Het

Other mutations in Pkhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Pkhd1	APN	1	20,566,874 (GRCm38)	critical splice acceptor site	probably null
IGL00687:Pkhd1	APN	1	20,524,070 (GRCm38)	missense	probably benign	0.19
IGL00824:Pkhd1	APN	1	20,081,184 (GRCm38)	critical splice donor site	probably null
IGL00870:Pkhd1	APN	1	20,571,390 (GRCm38)	missense	probably damaging	1.00
IGL00911:Pkhd1	APN	1	20,117,747 (GRCm38)	missense	probably benign	0.00
IGL01015:Pkhd1	APN	1	20,523,258 (GRCm38)	missense	possibly damaging	0.95
IGL01025:Pkhd1	APN	1	20,209,176 (GRCm38)	missense	probably benign	0.04
IGL01064:Pkhd1	APN	1	20,534,530 (GRCm38)	splice site	probably benign
IGL01313:Pkhd1	APN	1	20,201,024 (GRCm38)	missense	probably damaging	1.00
IGL01340:Pkhd1	APN	1	20,522,977 (GRCm38)	missense	probably benign	0.01
IGL01352:Pkhd1	APN	1	20,549,715 (GRCm38)	missense	probably benign	0.34
IGL01456:Pkhd1	APN	1	20,199,459 (GRCm38)	missense	probably damaging	1.00
IGL01530:Pkhd1	APN	1	20,559,419 (GRCm38)	critical splice donor site	probably null
IGL01557:Pkhd1	APN	1	20,116,979 (GRCm38)	missense	possibly damaging	0.59
IGL01655:Pkhd1	APN	1	20,534,633 (GRCm38)	nonsense	probably null
IGL01790:Pkhd1	APN	1	20,558,671 (GRCm38)	missense	probably damaging	0.96
IGL01862:Pkhd1	APN	1	20,358,910 (GRCm38)	missense	probably damaging	1.00
IGL01874:Pkhd1	APN	1	20,103,235 (GRCm38)	missense	probably benign	0.32
IGL01901:Pkhd1	APN	1	20,220,083 (GRCm38)	missense	probably benign	0.11
IGL01903:Pkhd1	APN	1	20,198,137 (GRCm38)	missense	probably damaging	1.00
IGL01981:Pkhd1	APN	1	20,523,567 (GRCm38)	missense	possibly damaging	0.64
IGL02068:Pkhd1	APN	1	20,522,747 (GRCm38)	missense	probably damaging	1.00
IGL02083:Pkhd1	APN	1	20,201,227 (GRCm38)	missense	probably damaging	1.00
IGL02084:Pkhd1	APN	1	20,377,399 (GRCm38)	missense	probably damaging	1.00
IGL02126:Pkhd1	APN	1	20,117,195 (GRCm38)	missense	probably damaging	1.00
IGL02136:Pkhd1	APN	1	20,275,615 (GRCm38)	missense	probably damaging	1.00
IGL02255:Pkhd1	APN	1	20,584,101 (GRCm38)	missense	probably damaging	1.00
IGL02272:Pkhd1	APN	1	20,209,260 (GRCm38)	missense	probably damaging	1.00
IGL02308:Pkhd1	APN	1	20,070,376 (GRCm38)	critical splice donor site	probably null
IGL02364:Pkhd1	APN	1	20,200,783 (GRCm38)	missense	probably benign
IGL02389:Pkhd1	APN	1	20,117,720 (GRCm38)	missense	probably damaging	0.99
IGL02394:Pkhd1	APN	1	20,199,486 (GRCm38)	missense	possibly damaging	0.57
IGL02403:Pkhd1	APN	1	20,562,418 (GRCm38)	missense	probably benign	0.01
IGL02415:Pkhd1	APN	1	20,414,421 (GRCm38)	missense	probably damaging	1.00
IGL02415:Pkhd1	APN	1	20,522,759 (GRCm38)	missense	probably damaging	1.00
IGL02455:Pkhd1	APN	1	20,364,201 (GRCm38)	missense	probably damaging	1.00
IGL02502:Pkhd1	APN	1	20,392,165 (GRCm38)	missense	probably damaging	1.00
IGL02511:Pkhd1	APN	1	20,073,507 (GRCm38)	missense	possibly damaging	0.90
IGL02530:Pkhd1	APN	1	20,117,720 (GRCm38)	missense	probably damaging	0.99
IGL02532:Pkhd1	APN	1	20,117,720 (GRCm38)	missense	probably damaging	0.99
IGL02534:Pkhd1	APN	1	20,117,720 (GRCm38)	missense	probably damaging	0.99
IGL02556:Pkhd1	APN	1	20,310,710 (GRCm38)	missense	probably damaging	1.00
IGL02570:Pkhd1	APN	1	20,520,256 (GRCm38)	missense	probably damaging	0.99
IGL02605:Pkhd1	APN	1	20,550,902 (GRCm38)	missense	possibly damaging	0.66
IGL02641:Pkhd1	APN	1	20,558,752 (GRCm38)	missense	possibly damaging	0.61
IGL02741:Pkhd1	APN	1	20,220,029 (GRCm38)	splice site	probably benign
IGL02752:Pkhd1	APN	1	20,553,591 (GRCm38)	missense	possibly damaging	0.57
IGL02890:Pkhd1	APN	1	20,361,011 (GRCm38)	missense	probably damaging	1.00
IGL02959:Pkhd1	APN	1	20,608,416 (GRCm38)	nonsense	probably null
IGL02960:Pkhd1	APN	1	20,377,446 (GRCm38)	missense	possibly damaging	0.69
IGL02990:Pkhd1	APN	1	20,522,963 (GRCm38)	missense	possibly damaging	0.52
IGL03037:Pkhd1	APN	1	20,522,699 (GRCm38)	missense	probably benign	0.06
IGL03082:Pkhd1	APN	1	20,565,633 (GRCm38)	missense	probably damaging	1.00
IGL03114:Pkhd1	APN	1	20,198,171 (GRCm38)	missense	probably damaging	0.99
IGL03288:Pkhd1	APN	1	20,201,019 (GRCm38)	missense	probably benign	0.01
IGL03328:Pkhd1	APN	1	20,081,300 (GRCm38)	splice site	probably benign
IGL03375:Pkhd1	APN	1	20,117,023 (GRCm38)	missense	probably damaging	1.00
IGL03380:Pkhd1	APN	1	20,200,670 (GRCm38)	missense	probably damaging	1.00
0152:Pkhd1	UTSW	1	20,522,894 (GRCm38)	missense	possibly damaging	0.46
IGL03046:Pkhd1	UTSW	1	20,537,365 (GRCm38)	missense	possibly damaging	0.81
LCD18:Pkhd1	UTSW	1	20,611,414 (GRCm38)	intron	probably benign
P0035:Pkhd1	UTSW	1	20,117,347 (GRCm38)	missense	probably benign	0.00
PIT4260001:Pkhd1	UTSW	1	20,222,906 (GRCm38)	missense	possibly damaging	0.51
R0063:Pkhd1	UTSW	1	20,211,950 (GRCm38)	missense	probably benign	0.02
R0063:Pkhd1	UTSW	1	20,211,950 (GRCm38)	missense	probably benign	0.02
R0071:Pkhd1	UTSW	1	20,201,344 (GRCm38)	missense	probably benign	0.11
R0071:Pkhd1	UTSW	1	20,201,344 (GRCm38)	missense	probably benign	0.11
R0094:Pkhd1	UTSW	1	20,209,246 (GRCm38)	missense	probably damaging	1.00
R0094:Pkhd1	UTSW	1	20,209,246 (GRCm38)	missense	probably damaging	1.00
R0103:Pkhd1	UTSW	1	20,523,359 (GRCm38)	missense	probably benign	0.04
R0103:Pkhd1	UTSW	1	20,523,359 (GRCm38)	missense	probably benign	0.04
R0105:Pkhd1	UTSW	1	20,523,732 (GRCm38)	nonsense	probably null
R0105:Pkhd1	UTSW	1	20,523,732 (GRCm38)	nonsense	probably null
R0115:Pkhd1	UTSW	1	20,350,490 (GRCm38)	missense	probably damaging	1.00
R0193:Pkhd1	UTSW	1	20,358,917 (GRCm38)	missense	probably damaging	1.00
R0245:Pkhd1	UTSW	1	20,540,400 (GRCm38)	missense	probably benign	0.03
R0277:Pkhd1	UTSW	1	20,275,538 (GRCm38)	missense	probably benign	0.04
R0310:Pkhd1	UTSW	1	20,549,822 (GRCm38)	splice site	probably null
R0323:Pkhd1	UTSW	1	20,275,538 (GRCm38)	missense	probably benign	0.04
R0395:Pkhd1	UTSW	1	20,381,547 (GRCm38)	missense	probably benign	0.26
R0412:Pkhd1	UTSW	1	20,117,788 (GRCm38)	missense	probably damaging	1.00
R0506:Pkhd1	UTSW	1	20,559,469 (GRCm38)	missense	probably benign	0.00
R0512:Pkhd1	UTSW	1	20,310,514 (GRCm38)	splice site	probably benign
R0550:Pkhd1	UTSW	1	20,347,223 (GRCm38)	missense	probably null	1.00
R0584:Pkhd1	UTSW	1	20,239,436 (GRCm38)	nonsense	probably null
R0586:Pkhd1	UTSW	1	20,524,111 (GRCm38)	missense	probably benign	0.04
R0598:Pkhd1	UTSW	1	20,200,890 (GRCm38)	missense	probably damaging	1.00
R0603:Pkhd1	UTSW	1	20,117,173 (GRCm38)	missense	probably benign	0.05
R0634:Pkhd1	UTSW	1	20,117,474 (GRCm38)	missense	probably damaging	1.00
R0677:Pkhd1	UTSW	1	20,524,230 (GRCm38)	missense	probably benign	0.01
R0746:Pkhd1	UTSW	1	20,198,107 (GRCm38)	missense	probably damaging	1.00
R0781:Pkhd1	UTSW	1	20,117,484 (GRCm38)	missense	probably benign	0.01
R0840:Pkhd1	UTSW	1	20,350,521 (GRCm38)	missense	probably damaging	0.98
R0946:Pkhd1	UTSW	1	20,199,381 (GRCm38)	missense	probably benign	0.10
R1018:Pkhd1	UTSW	1	20,201,259 (GRCm38)	missense	possibly damaging	0.89
R1028:Pkhd1	UTSW	1	20,117,726 (GRCm38)	missense	probably damaging	1.00
R1136:Pkhd1	UTSW	1	20,522,829 (GRCm38)	missense	possibly damaging	0.68
R1178:Pkhd1	UTSW	1	20,585,157 (GRCm38)	critical splice donor site	probably null
R1180:Pkhd1	UTSW	1	20,585,157 (GRCm38)	critical splice donor site	probably null
R1222:Pkhd1	UTSW	1	20,567,456 (GRCm38)	missense	probably benign	0.07
R1334:Pkhd1	UTSW	1	20,533,905 (GRCm38)	missense	possibly damaging	0.81
R1335:Pkhd1	UTSW	1	20,571,405 (GRCm38)	missense	probably damaging	1.00
R1387:Pkhd1	UTSW	1	20,555,223 (GRCm38)	splice site	probably benign
R1411:Pkhd1	UTSW	1	20,373,896 (GRCm38)	missense	probably damaging	1.00
R1443:Pkhd1	UTSW	1	20,534,558 (GRCm38)	missense	probably damaging	1.00
R1448:Pkhd1	UTSW	1	20,585,157 (GRCm38)	critical splice donor site	probably null
R1468:Pkhd1	UTSW	1	20,523,341 (GRCm38)	missense	probably damaging	1.00
R1468:Pkhd1	UTSW	1	20,523,341 (GRCm38)	missense	probably damaging	1.00
R1473:Pkhd1	UTSW	1	20,522,983 (GRCm38)	missense	probably benign	0.00
R1524:Pkhd1	UTSW	1	20,117,780 (GRCm38)	missense	probably damaging	1.00
R1532:Pkhd1	UTSW	1	20,117,401 (GRCm38)	missense	probably benign	0.08
R1565:Pkhd1	UTSW	1	20,347,457 (GRCm38)	missense	probably damaging	1.00
R1572:Pkhd1	UTSW	1	20,347,440 (GRCm38)	missense	probably benign	0.02
R1583:Pkhd1	UTSW	1	20,117,825 (GRCm38)	missense	probably benign
R1617:Pkhd1	UTSW	1	20,198,050 (GRCm38)	missense	possibly damaging	0.95
R1631:Pkhd1	UTSW	1	20,522,897 (GRCm38)	missense	probably benign	0.06
R1655:Pkhd1	UTSW	1	20,584,129 (GRCm38)	missense	probably damaging	1.00
R1707:Pkhd1	UTSW	1	20,550,840 (GRCm38)	splice site	probably benign
R1753:Pkhd1	UTSW	1	20,533,905 (GRCm38)	missense	possibly damaging	0.81
R1782:Pkhd1	UTSW	1	20,565,711 (GRCm38)	missense	probably damaging	0.98
R1791:Pkhd1	UTSW	1	20,585,152 (GRCm38)	splice site	probably benign
R1822:Pkhd1	UTSW	1	20,347,457 (GRCm38)	missense	probably damaging	1.00
R1823:Pkhd1	UTSW	1	20,347,457 (GRCm38)	missense	probably damaging	1.00
R1824:Pkhd1	UTSW	1	20,347,457 (GRCm38)	missense	probably damaging	1.00
R1836:Pkhd1	UTSW	1	20,117,069 (GRCm38)	missense	probably benign	0.01
R1862:Pkhd1	UTSW	1	20,551,020 (GRCm38)	missense	probably benign	0.00
R1863:Pkhd1	UTSW	1	20,551,020 (GRCm38)	missense	probably benign	0.00
R1869:Pkhd1	UTSW	1	20,615,267 (GRCm38)	critical splice donor site	probably null
R1913:Pkhd1	UTSW	1	20,566,756 (GRCm38)	critical splice donor site	probably null
R1928:Pkhd1	UTSW	1	20,081,300 (GRCm38)	splice site	probably benign
R1969:Pkhd1	UTSW	1	20,381,523 (GRCm38)	missense	probably damaging	1.00
R1970:Pkhd1	UTSW	1	20,381,523 (GRCm38)	missense	probably damaging	1.00
R1981:Pkhd1	UTSW	1	20,117,060 (GRCm38)	missense	probably benign	0.00
R2008:Pkhd1	UTSW	1	20,199,459 (GRCm38)	missense	probably damaging	0.99
R2034:Pkhd1	UTSW	1	20,200,669 (GRCm38)	missense	probably damaging	1.00
R2061:Pkhd1	UTSW	1	20,612,812 (GRCm38)	missense	possibly damaging	0.76
R2062:Pkhd1	UTSW	1	20,201,335 (GRCm38)	missense	probably damaging	0.97
R2108:Pkhd1	UTSW	1	20,553,574 (GRCm38)	nonsense	probably null
R2142:Pkhd1	UTSW	1	20,523,895 (GRCm38)	missense	probably benign	0.00
R2148:Pkhd1	UTSW	1	20,414,220 (GRCm38)	critical splice donor site	probably null
R2176:Pkhd1	UTSW	1	20,553,517 (GRCm38)	missense	probably damaging	1.00
R2202:Pkhd1	UTSW	1	20,537,360 (GRCm38)	missense	probably benign	0.06
R2255:Pkhd1	UTSW	1	20,565,639 (GRCm38)	missense	probably benign	0.23
R2269:Pkhd1	UTSW	1	20,534,535 (GRCm38)	critical splice donor site	probably null
R2275:Pkhd1	UTSW	1	20,200,849 (GRCm38)	missense	possibly damaging	0.95
R2340:Pkhd1	UTSW	1	20,200,855 (GRCm38)	missense	probably damaging	1.00
R2431:Pkhd1	UTSW	1	20,201,165 (GRCm38)	missense	possibly damaging	0.63
R2679:Pkhd1	UTSW	1	20,209,182 (GRCm38)	missense	probably benign	0.03
R2850:Pkhd1	UTSW	1	20,509,076 (GRCm38)	missense	possibly damaging	0.89
R2851:Pkhd1	UTSW	1	20,058,302 (GRCm38)	missense	probably benign	0.16
R2853:Pkhd1	UTSW	1	20,058,302 (GRCm38)	missense	probably benign	0.16
R2984:Pkhd1	UTSW	1	20,222,961 (GRCm38)	missense	possibly damaging	0.84
R2987:Pkhd1	UTSW	1	20,104,599 (GRCm38)	missense	possibly damaging	0.87
R3692:Pkhd1	UTSW	1	20,555,129 (GRCm38)	missense	possibly damaging	0.87
R3721:Pkhd1	UTSW	1	20,585,655 (GRCm38)	missense	probably benign	0.08
R3746:Pkhd1	UTSW	1	20,058,300 (GRCm38)	makesense	probably null
R3838:Pkhd1	UTSW	1	20,534,629 (GRCm38)	missense	possibly damaging	0.66
R3843:Pkhd1	UTSW	1	20,558,723 (GRCm38)	missense	probably benign	0.00
R3861:Pkhd1	UTSW	1	20,200,927 (GRCm38)	missense	probably damaging	1.00
R3893:Pkhd1	UTSW	1	20,312,138 (GRCm38)	nonsense	probably null
R3926:Pkhd1	UTSW	1	20,550,873 (GRCm38)	missense	probably benign	0.00
R4183:Pkhd1	UTSW	1	20,117,807 (GRCm38)	missense	probably benign	0.03
R4184:Pkhd1	UTSW	1	20,563,686 (GRCm38)	missense	probably benign	0.06
R4184:Pkhd1	UTSW	1	20,209,277 (GRCm38)	missense	probably benign	0.03
R4255:Pkhd1	UTSW	1	20,593,934 (GRCm38)	missense	probably damaging	0.99
R4275:Pkhd1	UTSW	1	20,058,384 (GRCm38)	missense	probably benign	0.00
R4342:Pkhd1	UTSW	1	20,058,617 (GRCm38)	missense	probably benign	0.00
R4386:Pkhd1	UTSW	1	20,414,292 (GRCm38)	missense	probably benign	0.00
R4402:Pkhd1	UTSW	1	20,239,411 (GRCm38)	missense	probably damaging	1.00
R4431:Pkhd1	UTSW	1	20,523,314 (GRCm38)	missense	probably damaging	0.99
R4560:Pkhd1	UTSW	1	20,211,858 (GRCm38)	missense	probably damaging	1.00
R4561:Pkhd1	UTSW	1	20,534,719 (GRCm38)	missense	possibly damaging	0.89
R4570:Pkhd1	UTSW	1	20,381,523 (GRCm38)	missense	probably damaging	1.00
R4571:Pkhd1	UTSW	1	20,613,409 (GRCm38)	missense	probably damaging	1.00
R4588:Pkhd1	UTSW	1	20,200,868 (GRCm38)	missense	probably benign	0.00
R4598:Pkhd1	UTSW	1	20,503,056 (GRCm38)	missense	probably damaging	1.00
R4651:Pkhd1	UTSW	1	20,381,523 (GRCm38)	missense	probably damaging	1.00
R4657:Pkhd1	UTSW	1	20,364,167 (GRCm38)	missense	possibly damaging	0.89
R4718:Pkhd1	UTSW	1	20,081,228 (GRCm38)	missense	probably damaging	1.00
R4740:Pkhd1	UTSW	1	20,524,130 (GRCm38)	missense	probably benign
R4750:Pkhd1	UTSW	1	20,524,112 (GRCm38)	missense	possibly damaging	0.57
R4816:Pkhd1	UTSW	1	20,199,415 (GRCm38)	missense	probably damaging	0.99
R4825:Pkhd1	UTSW	1	20,537,401 (GRCm38)	missense	probably damaging	0.96
R4885:Pkhd1	UTSW	1	20,070,488 (GRCm38)	missense	possibly damaging	0.55
R4907:Pkhd1	UTSW	1	20,209,226 (GRCm38)	missense	probably damaging	1.00
R4944:Pkhd1	UTSW	1	20,288,205 (GRCm38)	missense	probably null	0.01
R5062:Pkhd1	UTSW	1	20,585,711 (GRCm38)	missense	probably benign	0.00
R5090:Pkhd1	UTSW	1	20,200,757 (GRCm38)	missense	probably damaging	1.00
R5104:Pkhd1	UTSW	1	20,585,191 (GRCm38)	missense	probably damaging	1.00
R5187:Pkhd1	UTSW	1	20,209,224 (GRCm38)	missense	possibly damaging	0.67
R5202:Pkhd1	UTSW	1	20,547,341 (GRCm38)	missense	probably benign	0.01
R5240:Pkhd1	UTSW	1	20,275,641 (GRCm38)	missense	probably benign	0.04
R5248:Pkhd1	UTSW	1	20,534,545 (GRCm38)	missense	probably benign	0.00
R5252:Pkhd1	UTSW	1	20,350,411 (GRCm38)	critical splice donor site	probably null
R5293:Pkhd1	UTSW	1	20,509,076 (GRCm38)	missense	possibly damaging	0.89
R5311:Pkhd1	UTSW	1	20,565,870 (GRCm38)	missense	possibly damaging	0.94
R5317:Pkhd1	UTSW	1	20,450,304 (GRCm38)	missense	probably damaging	1.00
R5346:Pkhd1	UTSW	1	20,523,434 (GRCm38)	missense	probably damaging	0.96
R5346:Pkhd1	UTSW	1	20,392,097 (GRCm38)	missense	probably benign
R5431:Pkhd1	UTSW	1	20,117,836 (GRCm38)	missense	probably benign	0.25
R5447:Pkhd1	UTSW	1	20,239,385 (GRCm38)	missense	probably benign	0.00
R5478:Pkhd1	UTSW	1	20,201,156 (GRCm38)	missense	probably damaging	1.00
R5497:Pkhd1	UTSW	1	20,377,404 (GRCm38)	missense	possibly damaging	0.94
R5554:Pkhd1	UTSW	1	20,081,252 (GRCm38)	missense	probably damaging	0.99
R5579:Pkhd1	UTSW	1	20,523,142 (GRCm38)	missense	probably damaging	0.96
R5614:Pkhd1	UTSW	1	20,073,526 (GRCm38)	missense	possibly damaging	0.83
R5648:Pkhd1	UTSW	1	20,558,626 (GRCm38)	missense	probably benign	0.04
R5651:Pkhd1	UTSW	1	20,117,807 (GRCm38)	missense	probably benign	0.03
R5665:Pkhd1	UTSW	1	20,588,531 (GRCm38)	missense	probably damaging	1.00
R5681:Pkhd1	UTSW	1	20,547,461 (GRCm38)	missense	possibly damaging	0.61
R5754:Pkhd1	UTSW	1	20,523,651 (GRCm38)	nonsense	probably null
R5760:Pkhd1	UTSW	1	20,073,554 (GRCm38)	missense	probably benign	0.02
R5776:Pkhd1	UTSW	1	20,209,185 (GRCm38)	missense	possibly damaging	0.62
R5782:Pkhd1	UTSW	1	20,058,600 (GRCm38)	missense	probably benign
R5810:Pkhd1	UTSW	1	20,200,673 (GRCm38)	missense	probably benign	0.26
R5814:Pkhd1	UTSW	1	20,199,405 (GRCm38)	missense	probably damaging	1.00
R5816:Pkhd1	UTSW	1	20,058,678 (GRCm38)	missense	probably benign	0.03
R5835:Pkhd1	UTSW	1	20,201,083 (GRCm38)	missense	probably benign	0.01
R5844:Pkhd1	UTSW	1	20,381,461 (GRCm38)	missense	probably benign	0.00
R5847:Pkhd1	UTSW	1	20,374,736 (GRCm38)	nonsense	probably null
R5852:Pkhd1	UTSW	1	20,377,408 (GRCm38)	missense	probably benign	0.22
R5863:Pkhd1	UTSW	1	20,520,210 (GRCm38)	missense	possibly damaging	0.63
R6213:Pkhd1	UTSW	1	20,523,770 (GRCm38)	missense	possibly damaging	0.80
R6351:Pkhd1	UTSW	1	20,211,951 (GRCm38)	missense	probably benign	0.00
R6386:Pkhd1	UTSW	1	20,551,020 (GRCm38)	missense	probably damaging	0.96
R6542:Pkhd1	UTSW	1	20,585,703 (GRCm38)	missense	probably benign	0.02
R6579:Pkhd1	UTSW	1	20,200,823 (GRCm38)	missense	probably benign	0.01
R6658:Pkhd1	UTSW	1	20,612,705 (GRCm38)	missense	probably damaging	1.00
R6765:Pkhd1	UTSW	1	20,058,339 (GRCm38)	missense	probably benign
R6886:Pkhd1	UTSW	1	20,347,280 (GRCm38)	missense	probably benign	0.01
R6892:Pkhd1	UTSW	1	20,523,515 (GRCm38)	missense	probably damaging	1.00
R6900:Pkhd1	UTSW	1	20,534,701 (GRCm38)	missense	probably benign	0.06
R6932:Pkhd1	UTSW	1	20,562,451 (GRCm38)	missense	probably benign	0.19
R7191:Pkhd1	UTSW	1	20,558,719 (GRCm38)	missense	probably benign	0.00
R7220:Pkhd1	UTSW	1	20,523,126 (GRCm38)	missense	possibly damaging	0.89
R7329:Pkhd1	UTSW	1	20,547,519 (GRCm38)	missense	probably damaging	0.96
R7361:Pkhd1	UTSW	1	20,593,953 (GRCm38)	missense	probably damaging	1.00
R7381:Pkhd1	UTSW	1	20,200,973 (GRCm38)	missense	probably damaging	1.00
R7388:Pkhd1	UTSW	1	20,239,304 (GRCm38)	missense	not run
R7436:Pkhd1	UTSW	1	20,200,701 (GRCm38)	missense	probably benign
R7473:Pkhd1	UTSW	1	20,549,756 (GRCm38)	missense	probably damaging	0.99
R7578:Pkhd1	UTSW	1	20,347,361 (GRCm38)	missense	probably damaging	1.00
R7751:Pkhd1	UTSW	1	20,200,925 (GRCm38)	missense	probably damaging	1.00
R7755:Pkhd1	UTSW	1	20,547,493 (GRCm38)	missense	probably damaging	0.98
R7757:Pkhd1	UTSW	1	20,562,415 (GRCm38)	missense	probably damaging	1.00
R7832:Pkhd1	UTSW	1	20,502,999 (GRCm38)	missense	probably damaging	1.00
R7834:Pkhd1	UTSW	1	20,312,049 (GRCm38)	missense	probably benign
R7920:Pkhd1	UTSW	1	20,275,535 (GRCm38)	missense	probably damaging	1.00
R8014:Pkhd1	UTSW	1	20,508,891 (GRCm38)	critical splice donor site	probably null
R8085:Pkhd1	UTSW	1	20,613,415 (GRCm38)	missense	probably damaging	1.00
R8087:Pkhd1	UTSW	1	20,523,089 (GRCm38)	missense	probably damaging	1.00
R8103:Pkhd1	UTSW	1	20,200,757 (GRCm38)	missense	probably damaging	1.00
R8122:Pkhd1	UTSW	1	20,562,458 (GRCm38)	missense	probably damaging	1.00
R8273:Pkhd1	UTSW	1	20,537,420 (GRCm38)	splice site	probably benign
R8485:Pkhd1	UTSW	1	20,523,033 (GRCm38)	missense	probably damaging	1.00
R8504:Pkhd1	UTSW	1	20,520,208 (GRCm38)	missense	probably benign	0.10
R8544:Pkhd1	UTSW	1	20,522,975 (GRCm38)	missense	probably damaging	1.00
R8692:Pkhd1	UTSW	1	20,392,150 (GRCm38)	missense	probably damaging	1.00
R8787:Pkhd1	UTSW	1	20,288,237 (GRCm38)	missense	probably damaging	0.99
R8853:Pkhd1	UTSW	1	20,073,455 (GRCm38)	critical splice donor site	probably null
R8907:Pkhd1	UTSW	1	20,117,561 (GRCm38)	missense	possibly damaging	0.88
R8934:Pkhd1	UTSW	1	20,392,010 (GRCm38)	critical splice donor site	probably null
R8990:Pkhd1	UTSW	1	20,347,305 (GRCm38)	missense	probably benign	0.00
R8998:Pkhd1	UTSW	1	20,364,201 (GRCm38)	missense	probably damaging	1.00
R9024:Pkhd1	UTSW	1	20,522,751 (GRCm38)	missense	probably benign	0.24
R9035:Pkhd1	UTSW	1	20,502,952 (GRCm38)	missense	probably damaging	1.00
R9092:Pkhd1	UTSW	1	20,562,362 (GRCm38)	missense	probably benign	0.00
R9238:Pkhd1	UTSW	1	20,534,575 (GRCm38)	missense	possibly damaging	0.89
R9258:Pkhd1	UTSW	1	20,373,950 (GRCm38)	missense	probably damaging	0.99
R9262:Pkhd1	UTSW	1	20,548,127 (GRCm38)	missense	probably benign	0.01
R9297:Pkhd1	UTSW	1	20,222,894 (GRCm38)	missense	probably benign	0.06
R9452:Pkhd1	UTSW	1	20,612,729 (GRCm38)	missense	possibly damaging	0.77
R9515:Pkhd1	UTSW	1	20,567,517 (GRCm38)	missense	probably damaging	1.00
R9540:Pkhd1	UTSW	1	20,199,346 (GRCm38)	missense	probably benign	0.00
R9542:Pkhd1	UTSW	1	20,117,780 (GRCm38)	missense	probably damaging	1.00
R9629:Pkhd1	UTSW	1	20,392,213 (GRCm38)	missense	possibly damaging	0.63
R9644:Pkhd1	UTSW	1	20,547,466 (GRCm38)	missense	probably benign	0.04
R9739:Pkhd1	UTSW	1	20,350,484 (GRCm38)	missense	probably damaging	1.00
R9767:Pkhd1	UTSW	1	20,414,412 (GRCm38)	missense	probably benign
R9781:Pkhd1	UTSW	1	20,117,441 (GRCm38)	missense	possibly damaging	0.95
R9803:Pkhd1	UTSW	1	20,566,849 (GRCm38)	missense	probably damaging	1.00
X0012:Pkhd1	UTSW	1	20,373,926 (GRCm38)	missense	probably damaging	1.00
X0067:Pkhd1	UTSW	1	20,520,226 (GRCm38)	missense	probably damaging	1.00
Z1176:Pkhd1	UTSW	1	20,523,747 (GRCm38)	missense	possibly damaging	0.81
Z1177:Pkhd1	UTSW	1	20,523,621 (GRCm38)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,310,594 (GRCm38)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,117,883 (GRCm38)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,551,019 (GRCm38)	missense	probably benign
Z1177:Pkhd1	UTSW	1	20,523,938 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATGCTCCGTGTGGAACTTAC -3'
(R):5'- AGAAGTATGCTCTATGTTTTCCCC -3'

Sequencing Primer
(F):5'- CTCCGTGTGGAACTTACTTGAGTAC -3'
(R):5'- CCCTGGACATCATTATATGTTTCAGG -3'

Posted On

2020-01-23